SMARD

2 hours at PCMC +
flashbacks of those days +
lots of dr. language broken down for me +
questions +
tears =
not much information

unfortunately ry ended up not being able to get off work to come to this apt. i was nervous not for talking with dr. swoboda or asking the right questions or remembering what she told me- i was nervous to walk in those doors. i was nervous i would see one of those wonderful doctors, nurses or any other staff that would make me just break down right there. i was nervous to remember.
.... enough about being there... onto our topic- SMARD.
Another blog friend -Daily Dakin- had a post on smard so I am stealing a bit of what she said and adding some of what I found out yesterday.

What is SMARD? Spinal Muscular Atrophy with Respiratory Distress (SMARD) is part of the Spinal Muscular Atrophy family of disease. It is a motor neuron disease, meaning there is progressive destruction of cells that control motor function, such as breathing and speaking. Cognitive function is unaffected. Like all motor neuron disease, there is no cure. It is an autosomal recessive disease, meaning in theory both Ryan and I carry the mutations that cause SMARD (this is as yet to be determined--we still need to be tested). Testing is done through blood work and was, until very recently, unavailable in the United States.
It usually takes up to 3 months to get any testing results back- Makenzie's blood was drawn on December 3rd and we got her results back December 31st (our amazing Doctor sped the process up for us.) Makenzie has a more unusual case- 2 different mutations.

How is it different from SMA? SMARD is caused by mutations on the IGHMBP2 gene, whereas 'regular' SMA is caused by mutations of the SMN gene. SMARD typically attacks breathing musculature first, and moves to other muscles, this is what happened with Makenzie. Every living child with SMARD is trached and ventilated--without the diaphragm these children cannot breathe.

SMARD is little understood and even less known. Since IGHMBP2 is such a 'newly' discovered gene, there is not a lot by way of information about SMARD (and what is available is scary or requires an MD to understand). As far as we are aware, there are only maybe 60 diagnosed cases in the world.
With SMA- roughly 1 in every 10,000 children are born with this disease.
With SMARD- roughly 1 in every 1,000,000 (if that) are born with this disease.
1 in 40 people are carriers of the SMA gene.
1 in 50,000 are carriers of the SMARD gene.

Our options are not ideal options either. I prefer to keep that part more private since much of it is extremely controversial. What Ryan and I choose to do will not be taken lightly. It will take a lot of thought and prayer but no matter what- nothing will happen for a very long time.
So there it is... dumb disease..